Gene: DBH-AS1

Alternate names for this Gene: NCRNA00118

Gene Summary:

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.2

Description of this Gene: DBH antisense RNA 1

Type of Gene: ncRNA

Gene: DBH

Alternate names for this Gene: DBM|ORTHYP1

Gene Summary: The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. The encoded protein, expressed in neuroscretory vesicles and chromaffin granules of the adrenal medulla, catalyzes the conversion of dopamine to norepinephrine, which functions as both a hormone and as the main neurotransmitter of the sympathetic nervous system. The enzyme encoded by this gene exists exists in both soluble and membrane-bound forms, depending on the absence or presence, respectively, of a signal peptide. Mutations in this gene cause dopamine beta-hydroxylate deficiency in human patients, characterized by deficits in autonomic and cardiovascular function, including hypotension and ptosis. Polymorphisms in this gene may play a role in a variety of psychiatric disorders.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.2

Description of this Gene: dopamine beta-hydroxylase

Type of Gene: protein-coding

rs6271 in DBH-AS1;DBH gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6271 in DBH-AS1;DBH gene and Diastolic blood pressure PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 28739976 2017 Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

rs6271 in DBH-AS1;DBH gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 27618452 2016 The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.